Linked Data
dbSNP Id:
rs11722554
ExAC:
4:5016883 G / A
gnomAD v2:
4-5016883-G-A
gnomAD v3:
4-5015156-G-A
gnomAD v4:
4-5015156-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5015156G>A , CM000666.2:g.5015156G>A | GRCh38 |
| NC_000004.11:g.5016883G>A , CM000666.1:g.5016883G>A | GRCh37 |
| NC_000004.10:g.5067784G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307746.9:c.406C>T MANE Select | ENSP00000303550.4:p.Arg136Cys | |
| ENST00000307746.8:c.406C>T | ENSP00000303550.4:p.Arg136Cys | |
| ENST00000506508.1:c.224C>T | ||
| ENST00000509419.1:c.273C>T | ||
| NM_018659.2:c.406C>T | NP_061129.1:p.Arg136Cys | |
| XR_925085.1:n.149-4767G>A | ||
| XR_925086.1:n.149-4767G>A | ||
| XR_925087.1:n.149-4767G>A | ||
| XM_017008299.1:c.*56C>T | XP_016863788.1:n.*56C>T | |
| NM_018659.3:c.406C>T MANE Select | NP_061129.1:p.Arg136Cys |